ClinVar Miner

Submissions for variant NM_153026.3(PRICKLE1):c.435G>A (p.Ala145=) (rs146650383)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000440016 SCV000614768 uncertain significance not specified 2017-02-15 criteria provided, single submitter clinical testing
GeneDx RCV000440016 SCV000514261 benign not specified 2015-07-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000371267 SCV000378707 uncertain significance Progressive myoclonus epilepsy with ataxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000371267 SCV000767798 uncertain significance Progressive myoclonus epilepsy with ataxia 2017-12-07 criteria provided, single submitter clinical testing This sequence change affects codon 145 of the PRICKLE1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PRICKLE1 protein. This variant is present in population databases (rs146650383, ExAC 0.01%). This variant has not been reported in the literature in individuals with PRICKLE1-related disease. ClinVar contains an entry for this variant (Variation ID: 308708). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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